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151

Nephropathic cystinosis: late complications of a multisystemic disease

Galina Nesterova, William Gahl

Journal:

Pediatric Nephrology

Year:

2008

Language:

english

File:

PDF, 575 KB

english, 2008

152

Genetic basis of cystinosis in Turkish patients: a single-center experience

Rezan Topaloglu, Thierry Vilboux, Turgay Coskun, Fatih Ozaltin, Brad Tinloy, Meral Gunay-Aygun, Aysin Bakkaloglu, Nesrin Besbas, Lambert van den Heuvel, Robert Kleta, William A. Gahl

Journal:

Pediatric Nephrology

Year:

2012

Language:

english

File:

PDF, 424 KB

english, 2012

153

Von der Stammzellforschung zur Stammzelltherapie? Fragen aus der Sicht von Biologie, Medizin, Recht und Ethik

Journal:

Ethik in der Medizin

Year:

2004

Language:

german

File:

PDF, 141 KB

german, 2004

154

Matthias Kettner (Hrsg) (2004) Biomedizin und Menschenwürde

Journal:

Ethik in der Medizin

Year:

2005

Language:

german

File:

PDF, 555 KB

german, 2005

155

Urban Wiesing (Hrsg. in Verbindung mit Gisela Bockenheimer-Lucius, Eduard Seidler und Georg Marckmann) (2003) Diesseits von Hippokrates. 20

Journal:

Ethik in der Medizin

Year:

2005

Language:

german

File:

PDF, 347 KB

german, 2005

156

Hermes A. Kick, Jochen Taupitz (Hrsg) (2003) Handeln und Unterlassen. Ethik und Recht in den Grenzbereichen von Medizin und Psychologie

Journal:

Ethik in der Medizin

Year:

2005

Language:

german

File:

PDF, 522 KB

german, 2005

157

Künstliche Ernährung – lebensnotwenig oder verzichtbar?

Klaus Gahl, Bernhard Wörmann · Braunschweig, Alfred Simon · Göttingen

Journal:

Ethik in der Medizin

Year:

2007

Language:

german

File:

PDF, 104 KB

german, 2007

158

Sterben in Würde

Journal:

Ethik in der Medizin

Year:

2008

Language:

german

File:

PDF, 111 KB

german, 2008

159

Gisela Bockenheimer und die Schriftleitung

Klaus Gahl* · Braunschweig

Journal:

Ethik in der Medizin

Year:

2008

Language:

german

File:

PDF, 97 KB

german, 2008

160

Medizinische Indikation zwischen Standardisierung und Individualisierung

Klaus Gahl, Gerald Neitzke

Journal:

Ethik in der Medizin

Year:

2010

Language:

german

File:

PDF, 210 KB

german, 2010

161

Anthropologische Medizin als klinische Wissenschaft

Klaus P. G. Gahl

Journal:

Ethik in der Medizin

Year:

2011

Language:

german

File:

PDF, 225 KB

german, 2011

162

7. Bioethik-Symposium: Medizin im Wandel – Individualisierte Medizin auf der Basis humangenetischer Diagnostik

Journal:

Ethik in der Medizin

Year:

2011

Language:

german

File:

PDF, 644 KB

german, 2011

163

Über die Einheit des Menschen aus ärztlicher Sicht

Journal:

Ethik in der Medizin

Year:

1999

Language:

german

File:

PDF, 56 KB

german, 1999

164

Fasting hypoglycemia in solitary fibrous tumor of the peritoneum: a diagnostic clue for an emergent situation

Gahl Greenberg, Itamar Pomeranz, Myra Shapiro-Feinberg, Rivka Zissin

Journal:

Emergency Radiology

Year:

2003

Language:

english

File:

PDF, 189 KB

english, 2003

165

Chemical individuality: Concept and outlook

Journal:

Journal of Inherited Metabolic Disease

Year:

2008

Language:

english

File:

PDF, 579 KB

english, 2008

166

Glyceryl triacetate for Canavan disease: A low-dose trial in infants and evaluation of a higher dose for toxicity in the tremor rat model

C. N. Madhavarao, P. Arun, Y. Anikster, S. R. Mog, O. Staretz-Chacham, J. R. Moffett, N. E. Grunberg, W. A. Gahl, A. M. A. Namboodiri

Journal:

Journal of Inherited Metabolic Disease

Year:

2009

Language:

english

File:

PDF, 251 KB

english, 2009

167

Metabolic acetate therapy improves phenotype in the tremor rat model of Canavan disease

Peethambaran Arun, Chikkathur N. Madhavarao, John R. Moffett, Kristen Hamilton, Neil E. Grunberg, Prasanth S. Ariyannur, William A. Gahl, Yair Anikster, Steven Mog, William C. Hallows, John M. Denu, A

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 863 KB

english, 2010

168

Trafficking of major histocompatibility complex class II molecules in human B-lymphoblasts deficient in the AP-3 adaptor complex

Steve Caplan, Esteban C Dell’Angelica, William A Gahl, Juan S Bonifacino

Journal:

Immunology Letters

Year:

2000

Language:

english

File:

PDF, 176 KB

english, 2000

169

Pulsed amperometric detection of carbohydrates in lysosomal storage disease fibroblasts: A new screening technique for carbohydrate storage diseases

Henk J. Blom, Hans C. Andersson, Donna M. Krasnewich, William A. Gahl

Journal:

Journal of Chromatography B: Biomedical Sciences and Applications

Year:

1990

Language:

english

File:

PDF, 711 KB

english, 1990

170

Melanocytes Derived from Patients with Hermansky–Pudlak Syndrome Types 1, 2, and 3 Have Distinct Defects in Cargo Trafficking

Richmond, Bonnie, Huizing, Marjan, Knapp, Jill, Koshoffer, Amy, Zhao, Yang, Gahl, William A, Boissy, Raymond E

Journal:

The Journal of Investigative Dermatology

Year:

2005

Language:

english

File:

PDF, 1.22 MB

english, 2005

171

Detection of hemizygosity in Hermansky – Pudlak syndrome by quantitative real-time PCR

AE Griffin, BR Cobb, PD Anderson, DA Claassen, A Helip-Wooley, M Huizing, WA Gahl

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 1.34 MB

english, 2005

172

Novel mutations in the HPS1 gene among Puerto Rican patients

C Carmona-Rivera, RA Hess, K O'Brien, G Golas, E Tsilou, JG White, WA Gahl, M Huizing

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 968 KB

english, 2011

173

Identifying Putative Promoter Regions of Hermansky-Pudlak Syndrome Genes by Means of Phylogenetic Footprinting

Horia Stanescu, Tyra G. Wolfsberg, R. Travis Moreland, Mariam H. Ayub, Elizabeth Erickson, Wendy Westbroek, Marjan Huizing, William A. Gahl, Amanda Helip-Wooley

Journal:

Annals of Human Genetics

Year:

2009

Language:

english

File:

PDF, 307 KB

english, 2009

174

Maternal serum diamine oxidase in fetal death and low-birth-weight infants

WILLIAM A. GAHL, RICHARD F. RAUBERTAS, ANN M. VALE, RJURIK GOLUBJATNIKOV

Journal:

BJOG: An International Journal of Obstetrics & Gynaecology

Year:

1982

Language:

english

File:

PDF, 450 KB

english, 1982

175

Varying Responses of Northeastern North American Amphibians to the Chytrid Pathogen Batrachochytrium dendrobatidis

MEGAN K. GAHL, JOYCE E. LONGCORE, JEFF E. HOULAHAN

Journal:

Conservation Biology

Year:

2012

Language:

english

File:

PDF, 693 KB

english, 2012

176

Proteomic analysis of platelet α-granules using mass spectrometry

D. M. MAYNARD, H. F. G. HEIJNEN, M. K. HORNE, J. G. WHITE, W. A. GAHL

Journal:

Journal of Thrombosis and Haemostasis

Year:

2007

Language:

english

File:

PDF, 720 KB

english, 2007

177

Hermansky-Pudlak syndrome: the importance of molecular subtyping

N. THIELEN, M. HUIZING, J. G. KRABBE, J. G. WHITE, T. J. JANSEN, P. A. MERLE, W. A. GAHL, S. ZWEEGMAN

Journal:

Journal of Thrombosis and Haemostasis

Year:

2010

Language:

english

File:

PDF, 244 KB

english, 2010

178

The α-granule proteome: novel proteins in normal and ghost granules in gray platelet syndrome

D. M. MAYNARD, H. F. G. HEIJNEN, W. A. GAHL, M. GUNAY-AYGUN

Journal:

Journal of Thrombosis and Haemostasis

Year:

2010

Language:

english

File:

PDF, 599 KB

english, 2010

179

Melanosomal Tyrosine Transport in Normal and Pink-eyed Dilution Murine Melanocytes

WILLIAM A. GAHL, BRIAN POTTERF, DONNA DURHAM-PIERRE, MURRAY H. BRILLIANT, VINCENT J. HEARING

Journal:

Pigment Cell & Melanoma Research

Year:

1995

Language:

english

File:

PDF, 587 KB

english, 1995

180

Cellular, Molecular and Clinical Characterization of Patients with Hermansky–Pudlak Syndrome Type 5

Marjan Huizing, Richard Hess, Heidi Dorward, David A. Claassen, Amanda Helip-Wooley, Robert Kleta, Muriel I. Kaiser-Kupfer, James G. White, William A. Gahl

Journal:

Year:

2004

Language:

english

File:

PDF, 7.89 MB

english, 2004

181

Hutchinson-Gilford progeria syndrome: oral and craniofacial phenotypes

DL Domingo, MI Trujillo, SE Council, MA Merideth, LB Gordon, T Wu, WJ Introne, WA Gahl, TC Hart

Journal:

Year:

2009

Language:

english

File:

PDF, 366 KB

english, 2009

182

Craniofacial and dental findings in cystinosis

CW Bassim, P Gautam, DL Domingo, JZ Balog, JP Guadagnini, WA Gahl, TC Hart

Journal:

Year:

2010

Language:

english

File:

PDF, 538 KB

english, 2010

183

Distribution of Roseobacter RCA and SAR11 lineages in the North Sea and characteristics of an abundant RCA isolate

Giebel, Helge-Ansgar, Kalhoefer, Daniela, Lemke, Andreas, Thole, Sebastian, Gahl-Janssen, Renate, Simon, Meinhard, Brinkhoff, Thorsten

Journal:

The ISME Journal

Year:

2010

Language:

english

File:

PDF, 716 KB

english, 2010

184

Protein losses during peritoneal dialysis

Blumenkrantz, Michael J, Gahl, Gerhard M, Kopple, Joel D, Kamdar, Anjana V, Jones, Michael R, Kessel, Michael, Coburn, Jack W

Journal:

Kidney International

Year:

1981

Language:

english

File:

PDF, 759 KB

english, 1981

185

Introduction

Gahl, Gerhard M, Boen, Fred S T, Nolph, Karl D

Journal:

Kidney International

Year:

1983

Language:

english

File:

PDF, 32 KB

english, 1983

186

Adaptation of CAPD patients to the continuous peritoneal energy uptake

von Baeyer, Hans, Gahl, Gerhard M, Riedinger, Hans, Borowzak, Ruth, Averdunk, Rüdiger, Schurig, Randolph, Kessel, Michael

Journal:

Kidney International

Year:

1983

Language:

english

File:

PDF, 263 KB

english, 1983

187

Longitudinal evaluation of peritoneal macrophage function and activation during CAPD: Maturity, cytokine synthesis and arachidonic acid metabolism

McGregor, Sheila J, Topley, Nicholas, Jörres, Achim, Speekenbrink, Antony B J, Gordon, Anne, Gahl, Gerhard M, Junor, Brian J R, Briggs, J Douglas, Brock, Jeremy H

Journal:

Kidney International

Year:

1996

Language:

english

File:

PDF, 724 KB

english, 1996

188

Linkage of the gene for cystinosis to markers on the short arm of chromosome 17

McDowell, Geraldine A., Gahl, William A., Stephenson, Leah A., Schneider, Jerry A., Weissenbach, Jean, Polymeropoulos, Mihael H., Town, Margaret M., van't Hoff, William, Farrall, Martin, Mathew, Chris

Journal:

Nature Genetics

Year:

1995

File:

PDF, 227 KB

1995

189

Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus

Kaler, Stephen G., Gallo, Linda K., Proud, Virginia K., Percy, Alan K., Mark, Yvonne, Segal, Neil A., Goldstein, David S., Holmes, Courtney S., Gahl, William A.

Journal:

Nature Genetics

Year:

1994

File:

PDF, 946 KB

1994

190

Mutations in the glutathione synthetase gene cause 5–oxoprolinuria

Shi, Zheng-Zheng, Habib, Geetha M., Rhead, William J., Gahl, William A., He, Xiangwei, Sazer, Shelley, Lieberman, Michael W.

Journal:

Nature Genetics

Year:

1996

File:

PDF, 691 KB

1996

191

10.1038/ng576

Anikster, Yair, Huizing, Marjan, White, James, Shevchenko, Yuriy O., Fitzpatrick, Diana L., Touchman, Jeffrey W., Compton, John G., Bale, Sherri J., Swank, Richard T., Gahl, William A., Toro, Jorge R.

Journal:

Nature Genetics

Year:

2001

Language:

english

File:

PDF, 985 KB

english, 2001

192

Targeting and tracing antigens in live cells with fluorescent nanobodies

Rothbauer, Ulrich, Zolghadr, Kourosh, Tillib, Sergei, Nowak, Danny, Schermelleh, Lothar, Gahl, Anja, Backmann, Natalija, Conrath, Katja, Muyldermans, Serge, Cardoso, M Cristina

Journal:

Year:

2006

Language:

english

File:

PDF, 303 KB

english, 2006

193

A femtosecond X-ray/optical cross-correlator

Gahl, Cornelius, Azima, Armin, Beye, Martin, Deppe, Martin, Döbrich, Kristian, Hasslinger, Urs, Hennies, Franz, Melnikov, Alexej, Nagasono, Mitsuru, Pietzsch, Annette

Journal:

Nature Photonics

Year:

2008

Language:

english

File:

PDF, 420 KB

english, 2008

194

Improper Trafficking of Melanocyte-Specific Proteins in Hermansky–Pudlak Syndrome Type-5

Helip-Wooley, Amanda, Westbroek, Wendy, Dorward, Heidi M, Koshoffer, Amy, Huizing, Marjan, Boissy, Raymond E, Gahl, William A

Journal:

The Journal of Investigative Dermatology

Year:

2007

Language:

english

File:

PDF, 375 KB

english, 2007

195

Hypoglycinaemia and psychomotor delay in a child with xeroderma pigmentosum

E. J. Quackenbush, K. H. Kraemer, W. A. Gahl, V. Schirch, D. A. H. Whiteman, K. Levine, H. L. Levy

Journal:

Journal of Inherited Metabolic Disease

Year:

1999

Language:

english

File:

PDF, 80 KB

english, 1999

196

Clinical course and biochemistry of sialuria

G.M. Enns, R. Seppala, T.J. Musci, K. Weisiger, L.D. Ferrell, D.A. Wenger, W.A. Gahl, S. Packman

Journal:

Journal of Inherited Metabolic Disease

Year:

2001

Language:

english

File:

PDF, 167 KB

english, 2001

197

Facultative use of seasonal pools by American bullfrogs (Rana catesbeiana)

Megan K. Gahl, Aram J. K. Calhoun, Rose Graves

Journal:

Year:

2009

Language:

english

File:

PDF, 238 KB

english, 2009

198

Audiologic and Otologic Manifestations of Hutchinson-Gilford Progeria Syndrome

Elizabeth Guardiani, Christopher Zalewski, Carmen Brewer, Melissa Merideth, Wendy Introne, Leslie Gordon, William Gahl, H. Jeffrey Kim

Journal:

The Laryngoscope

Year:

2010

Language:

english

File:

PDF, 705 KB

english, 2010

199

IgG4-related disease presenting as recurrent mastoiditis

Adam I. Schiffenbauer, Colleen Wahl, Stefania Pittaluga, Elaine S. Jaffe, Ronald Hoffman, Arezou Khosroshahi, John H. Stone, Vikram Deshpande, William A. Gahl, Fred Gill

Journal:

The Laryngoscope

Year:

2012

Language:

english

File:

PDF, 947 KB

english, 2012

200

Effects of Cycloheximide and Tunicamycin on Lysosomal Cystine Transport in Rat FRTL-5 Cells

W.A. Gahl, I. Bernardini, F. Tietze, L.D. Kohn

Journal:

Biochemical Medicine and Metabolic Biology

Year:

1993

File:

PDF, 598 KB

1993

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